Canonical Allele Identifier: CA754138978

Gene: SHANK3

Linked Data

• dbSNP Id: rs1255974018
• gnomAD v3: 22-50697771-CCG-C
• gnomAD v4: 22-50697771-CCG-C
• MyVariant Identifiers: chr22:g.51136200_51136201del (hg19) ; chr22:g.50697772_50697773del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697778_50697779del , CM000684.2:g.50697778_50697779del	GRCh38
NC_000022.10:g.51136206_51136207del , CM000684.1:g.51136206_51136207del	GRCh37
NC_000022.9:g.49483072_49483073del	NCBI36
NG_008607.2:g.28424_28425del
NG_070230.1:g.33642_33643del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1099+63_1099+64del	ENSP00000489147.2:n.1099+63_1099+64del
ENST00000414786.7:n.1683+63_1683+64del
ENST00000445220.7:c.151+63_151+64del	ENSP00000489407.2:n.151+63_151+64del
ENST00000673971.2:c.1456+63_1456+64del	ENSP00000501192.1:n.1456+63_1456+64del
ENST00000445220.6:c.151+63_151+64del	ENSP00000489407.2:n.151+63_151+64del
ENST00000262795.6:c.1099+63_1099+64del	ENSP00000489147.2:n.1099+63_1099+64del
ENST00000673971.1:c.1456+63_1456+64del	ENSP00000501192.1:n.1456+63_1456+64del
ENST00000673995.1:c.152+63_152+64del
ENST00000262795.5:c.1495+63_1495+64del	ENSP00000489147.1:n.1495+63_1495+64del
ENST00000414786.6:n.1683+63_1683+64del
ENST00000445220.5:c.1477+63_1477+64del	ENSP00000489407.1:n.1477+63_1477+64del